What is Robinow syndrome?
Robinow syndrome is a very rare disorder that affects development of the skeleton and other body parts. It can cause bone abnormalities, such as short arms, legs, fingers and toes. It also can cause a curved spine, missing ribs, abnormal facial features genital abnormalities and developmental delays.
How is Robinow syndrome diagnosed?
Diagnosis of Robinow syndrome is usually made shortly after birth based on physical findings including short stature, limb and genital abnormalities and characteristic facial features. Molecular genetic testing for mutations in the ROR2 gene is available to confirm the diagnosis of autosomal recessive Robinow syndrome.
What are posteriorly rotated ears?
Definition. A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). [ from HPO]
What is a dysmorphology assessment?
A dysmorphology assessment of a newborn focuses on aspects of history, physical examination and investigations that may lead to a syndrome diagnosis. This assessment should be carried out on a child with any of the following: a congenital abnormality. growth abnormalities. dysmorphic features.
What is Mowat Wilson syndrome?
Description. Collapse Section. Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.
What is Kabuki syndrome?
What is Kabuki syndrome? Kabuki syndrome is a rare congenital disorder, meaning that a child is born with the condition. Children with Kabuki syndrome usually have distinctive facial features, mild to moderate mental impairment and growth problems.
What is Noonan syndrome?
Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
What does it mean when ears are lower than eyes?
Clinically, if the point at which the helix of the outer ear meets the cranium is at or below the line connecting the inner canthi of eyes(bicanthal plane), the ears are considered low set. Low-set ears can be associated with conditions such as: Down syndrome. Turner syndrome.
What is Carpenter’s syndrome?
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly).
What is Freeman Sheldon Syndrome?
Freeman-Sheldon syndrome (also known as Freeman-Burian syndrome) is a condition that primarily affects muscles in the face and skull (craniofacial muscles) and can often affect joints in the hands and feet.
What are symptoms of Jacobsen syndrome?
These include small and low-set ears, widely set eyes (hypertelorism ) with droopy eyelids (ptosis ), skin folds covering the inner corner of the eyes (epicanthal folds ), a broad nasal bridge , downturned corners of the mouth , a thin upper lip , and a small lower jaw .
What is Bardet Biedl syndrome?
Summary. Bardet-Biedl syndrome (BBS) is a genetic condition that impacts multiple body systems. It is classically defined by six features. Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen. They often also suffer from intellectual impairments.
What is Fraser syndrome?
Summary. Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract.